Neurology Practice Questions

Q: A pediatric patient presents with a 45-minute history of continuous convulsions. The senior resident (SR) recommends IV lorazepam, but the junior resident (JR) is unable to secure IV access. What is the next best step in management?

Rectal diazepam. ***Rectal diazepam*** - Rectal diazepam is an **effective first-line alternative** when IV access cannot be obtained in status epilepticus - It has a **rapid onset of action** (within 2-5 minutes) and can be easily administered in emergency settings - **Widely available** and part of established pediatric seizure protocols globally - Both rectal diazepam and IM midazolam are acceptable alternatives per current guidelines *Intramuscular midazolam* - IM midazolam is **equally effective** and increasingly preferred in many modern protocols when IV access is unavailable - The RAMPART trial demonstrated **faster seizure cessation** with IM midazolam compared to rectal diazepam in prehospital settings - **Both IM midazolam and rectal diazepam** are considered first-line alternatives per WHO and major pediatric emergency guidelines - Either option is appropriate depending on local protocols and availability *Intramuscular phenobarbital* - Phenobarbital has a **slower onset of action** when given intramuscularly (15-30 minutes) - Typically reserved for **refractory status epilepticus** or as a second-line agent after benzodiazepines have failed - Not preferred as an immediate alternative to IV lorazepam *IV phenytoin* - IV phenytoin **requires IV access**, which is specifically unavailable in this scenario - It is a second-line antiepileptic for status epilepticus, used after benzodiazepines - Requires **cardiac monitoring** due to risk of hypotension and arrhythmias

Q: Duchenne's muscular dystrophy affects which group of muscles commonly:

Proximal muscles. ***Proximal muscles*** - Duchenne's muscular dystrophy (DMD) is characterized by **progressive proximal muscle weakness**, which is the hallmark feature of this X-linked recessive disorder. - The weakness typically begins in the **pelvic girdle muscles** (hip flexors, quadriceps) and later progresses to involve the **shoulder girdle muscles**. - This proximal pattern of weakness leads to classic clinical features: difficulty **climbing stairs**, **rising from the floor** (Gower's sign), **waddling gait**, and difficulty **raising arms overhead**. - The term "proximal muscles" accurately encompasses the characteristic distribution of muscle involvement in DMD, making it the most correct answer. *Shoulder muscles* - While shoulder girdle muscles are indeed affected in DMD, they are typically involved **after the pelvic girdle muscles**. - This option is too specific and does not capture the **generalized proximal muscle weakness** that defines DMD. - Shoulder muscle weakness becomes prominent as the disease progresses, but it is not the initial or most characteristic presentation. *Calf muscles* - Calf muscles may show **pseudohypertrophy** (apparent enlargement due to replacement of muscle with fat and connective tissue), which is a characteristic finding in DMD. - However, pseudohypertrophy does not represent true muscle strength, and the calves are **distal muscles**, not the primary site of weakness. - DMD is a **proximal myopathy**, not a distal myopathy. *Respiratory muscles* - **Respiratory muscle weakness** (diaphragm and intercostal muscles) is a serious and life-threatening complication of DMD. - However, respiratory involvement occurs **later in the disease course**, typically in the second decade of life. - Progressive respiratory failure is a major cause of morbidity and mortality in DMD but is not the early or most characteristic muscle group affected.

Q: All the following are Causes of spasticity in a 2 year old child except

Congenital muscular dystrophy. ***Congenital muscular dystrophy*** - This condition is characterized by **muscle weakness and hypotonia**, not spasticity, due to primary muscle pathology. - Spasticity is a sign of **upper motor neuron involvement**, whereas muscular dystrophies are disorders of peripheral muscle fibers resulting in **flaccid weakness**. *Cerebral Palsy* - This is the **most common cause of spasticity in children**, resulting from **non-progressive brain injury during development**. - **Spastic cerebral palsy** accounts for 70-80% of CP cases, characterized by increased muscle tone, hyperreflexia, and extensor plantar responses. *Kernicterus* - **Bilirubin encephalopathy** from severe neonatal hyperbilirubinemia causes **basal ganglia damage**. - Results in **extrapyramidal cerebral palsy** with spasticity, choreoathetosis, and developmental delays. *Birth asphyxia* - **Hypoxic-ischemic encephalopathy** from perinatal asphyxia causes **upper motor neuron damage**. - Leads to spastic quadriplegia or diplegia with increased tone, hyperreflexia, and developmental impairment.

Q: A newborn has been brought with seizures refractory to treatment and a continuous bruit through the anterior fontanelle. CT shows midline lesion with hypoechogenicity and dilated lateral ventricles. Most probable diagnosis is?

Vein of Galen malformation. ***Vein of Galen malformation*** - A **continuous bruit** over the anterior fontanelle in a newborn is a classic sign of a **Vein of Galen malformation**, indicating high blood flow through an arteriovenous shunt. - The imaging findings of a **midline hypoechoic lesion** (dilated venous structure) and **dilated lateral ventricles** (due to hydrocephalus from venous congestion or obstruction) are consistent with this diagnosis. *Teratoma* - While teratomas are **germ cell tumors** that can occur in the brain, they typically present as a more solid or mixed solid-cystic mass on imaging, not primarily as hypoechoic. - A teratoma would not typically produce a **continuous bruit** over the fontanelle. *Encephalocele* - An encephalocele is a **neural tube defect** involving protrusion of brain tissue and meninges through a skull defect, which would be evident on physical examination and imaging as a sac-like protrusion. - It does not present with a **continuous bruit** or an intracranial hypoechoic midline lesion like a vascular malformation. *Arachnoid cyst* - An arachnoid cyst is a **benign, fluid-filled sac** that typically appears as a well-demarcated, anechoic (on ultrasound) or CSF-attenuated lesion on CT, often displacing surrounding brain tissue. - It would not produce a **continuous bruit** and is not usually associated with the specific constellation of symptoms seen here.

Q: A 4-year-old male child presents with muscle weakness. His mother reports that her child has difficulty in climbing stairs and getting up from the floor. On muscle biopsy, small degenerated muscle fibers and absence of dystrophin were found. What is the diagnosis?

Duchenne muscular dystrophy. ***Duchenne muscular dystrophy*** - The classic presentation of a young boy with **progressive muscle weakness**, difficulty climbing stairs (**Gowers' sign**), and **absent dystrophin** on muscle biopsy is characteristic of Duchenne muscular dystrophy. - It is an **X-linked recessive disorder** that leads to severe muscle degeneration and weakness due to a complete lack of functional dystrophin protein. *Myotonic dystrophy* - This condition is characterized by **myotonia** (delayed relaxation of muscles after contraction) and typically affects adults, although congenital forms exist. - While it causes muscle weakness, the primary differentiating feature of **myotonia** and its later onset are not present in this case. *Becker's muscle dystrophy* - Becker's muscular dystrophy (BMD) is also an X-linked recessive disorder and a milder form of muscular dystrophy, caused by a **reduced but still functional dystrophin** protein. - Patients with BMD typically present later in childhood or adolescence with slower progression and **some dystrophin** presence, unlike the absent dystrophin and early onset here. *Limb-girdle muscular dystrophy* - This is a group of muscular dystrophies that primarily affect the **pelvic and shoulder girdle muscles**. - It can present with similar weakness, but the **complete absence of dystrophin** found on biopsy points specifically to Duchenne muscular dystrophy, not typical limb-girdle dystrophy, which involves other genetic defects.

Q: An adolescent school girl complains of dropping objects from hands, it gets precipitated during morning and during exams. There is no history of loss of consciousness and her cousin sister has been diagnosed with epilepsy. EEG was suggestive of epileptic spikes. What is the diagnosis?

Juvenile myoclonic epilepsy. ***Juvenile myoclonic epilepsy*** - This diagnosis is supported by the patient's age (adolescent), the **myoclonic jerks** (dropping objects), precipitation in the morning or with stress (exams), and a family history of epilepsy. - The **EEG showing epileptic spikes** further confirms the diagnosis, as **polyspike-wave discharges** are characteristic. *Benign rolandic epilepsy* - Typically presents with **nocturnal seizures** involving facial and pharyngeal muscles, often with speech arrest and salivation. - While it occurs in childhood, it is usually outgrown by adolescence and does not typically manifest as dropping objects or with morning precipitation. *Atypical absence* - Characterized by **brief staring spells with altered consciousness**, but usually with more pronounced motor phenomena than typical absence seizures. - However, the prominent myoclonic jerks and the familial history described here are more consistent with JME. *Choreo-athetoid epilepsy* - This is not a recognized epilepsy syndrome; choreoathetosis refers to a type of **movement disorder** characterized by involuntary, jerky, writhing movements. - While movement disorders can be associated with some forms of epilepsy, the primary presentation described does not fit this classification.

Q: A 6-year-old with recurrent febrile seizures presents lethargic with a high fever. What is the most appropriate next step in management?

Perform lumbar puncture. ***Perform lumbar puncture*** - The combination of **lethargy**, high fever, and a history of recurrent febrile seizures in a 6-year-old child raises suspicion for **meningitis or encephalitis**, necessitating a prompt **lumbar puncture** to analyze **cerebrospinal fluid (CSF)**. - While febrile seizures alone are benign, **altered mental status (lethargy)** in conjunction with fever is a red flag for **central nervous system infection**. *Consider using antipyretics for comfort* - **Antipyretics** can help reduce fever and improve comfort but do not address the underlying cause of lethargy and potential CNS infection. - Delaying definitive diagnostic steps like a **lumbar puncture** while waiting for antipyretics to work could worsen the patient's prognosis if a serious infection is present. *Start anticonvulsants* - **Anticonvulsants** are primarily used for managing ongoing seizures or preventing recurrent non-febrile seizures but are **not indicated as a first-line diagnostic or emergency treatment** for a child presenting with **fever and lethargy without active seizures**. - There is no clinical indication of current seizure activity, and the immediate concern is detecting a potential **CNS infection**. *Order urgent EEG* - An **EEG (electroencephalogram)** is useful for evaluating seizure disorders or encephalopathy but is **not the most appropriate initial diagnostic step** when a **serious CNS infection like meningitis** is suspected. - A **lumbar puncture** is crucial for diagnosing or ruling out meningitis, which requires immediate treatment.

Q: A 2-year-old boy presents with generalized tonic-clonic seizures, and his development has been normal. Which investigation should be performed first?

Electrolyte levels. ***Electrolyte levels*** - This is the **first-line investigation** for new-onset seizures, especially in children, to rule out common and easily treatable metabolic causes. - **Hypoglycemia**, **hypocalcemia**, and **hyponatremia** can all trigger seizures and are readily identifiable with a basic metabolic panel. *CT scan of the head* - While useful for acute structural abnormalities like **hemorrhage** or large tumors, it exposes the child to **radiation** and is usually reserved for cases where other causes have been ruled out or if there are focal neurological signs. - It provides less detail than an MRI for soft tissue and subtle lesions. *EEG* - An **EEG** is performed to characterize the **epileptic discharges** and classify the type of seizure or epilepsy syndrome, and hence is useful for guiding long-term management. - It is not typically the first investigation for an **unexplained acute seizure**, as it doesn't identify the immediate underlying cause in most emergent situations. *MRI* - **MRI** provides much more detailed imaging of brain structure than CT and is preferred for investigating **structural causes of epilepsy**, especially for subtle lesions, congenital malformations, or hippocampal sclerosis. - However, it is a more time-consuming and expensive test, often requiring **sedation** in young children, and is usually performed after ruling out acute metabolic causes.

Q: Which of the following is NOT a feature of Rett's syndrome?

Focal Convulsions. ***Focal Convulsions*** - While **seizures occur in 60-80% of individuals with Rett syndrome**, focal convulsions are **not part of the diagnostic criteria** for the condition. - When seizures occur in Rett syndrome, they are typically **mixed types** (generalized tonic-clonic, myoclonic, or absence), though focal seizures can occur, they are less characteristic. - The **core diagnostic features** of Rett syndrome focus on developmental regression, hand stereotypies, and acquired microcephaly rather than seizure patterns. *Microcephaly* - **Acquired progressive microcephaly** (deceleration of head growth) is a **major diagnostic criterion** for Rett syndrome, typically appearing between 5 months and 4 years of age. - This reflects underlying **neurological regression** and is one of the cardinal features distinguishing Rett syndrome from other developmental disorders. *Regression of milestones* - **Loss of acquired purposeful hand skills and spoken language** is the hallmark and **essential diagnostic criterion** of Rett syndrome. - After **6-18 months of normal development**, affected children undergo a distinctive regression phase, losing previously acquired skills—this defines the condition. *Cardiac arrhythmias* - **Prolonged QT interval and cardiac arrhythmias** are well-documented features of Rett syndrome, occurring in a significant proportion of patients. - These contribute to increased risk of **sudden unexpected death in Rett syndrome (SUDRS)** and require cardiac monitoring.

Question 1

A pediatric patient presents with a 45-minute history of continuous convulsions. The senior resident (SR) recommends IV lorazepam, but the junior resident (JR) is unable to secure IV access. What is the next best step in management?

Accepted Answer

Rectal diazepam

Answer

Intramuscular phenobarbital

Answer

Intramuscular midazolam

Answer

IV phenytoin

Question 2

Duchenne's muscular dystrophy affects which group of muscles commonly:

Accepted Answer

Proximal muscles

Answer

Calf muscles

Answer

Shoulder muscles

Answer

Respiratory muscles

Question 3

All the following are Causes of spasticity in a 2 year old child except

Accepted Answer

Congenital muscular dystrophy

Answer

Cerebral Palsy

Answer

Kernicterus

Answer

Birth asphyxia

Question 4

A newborn has been brought with seizures refractory to treatment and a continuous bruit through the anterior fontanelle. CT shows midline lesion with hypoechogenicity and dilated lateral ventricles. Most probable diagnosis is?

Accepted Answer

Vein of Galen malformation

Answer

Teratoma

Answer

Encephalocele

Answer

Arachnoid cyst

Question 5

A 4-year-old male child presents with muscle weakness. His mother reports that her child has difficulty in climbing stairs and getting up from the floor. On muscle biopsy, small degenerated muscle fibers and absence of dystrophin were found. What is the diagnosis?

Accepted Answer

Duchenne muscular dystrophy

Answer

Myotonic dystrophy

Answer

Becker's muscle dystrophy

Answer

Limb-girdle muscular dystrophy

Question 6

An adolescent school girl complains of dropping objects from hands, it gets precipitated during morning and during exams. There is no history of loss of consciousness and her cousin sister has been diagnosed with epilepsy. EEG was suggestive of epileptic spikes. What is the diagnosis?

Accepted Answer

Juvenile myoclonic epilepsy

Answer

Benign rolandic epilepsy

Answer

Atypical absence

Answer

Choreo-athetoid epilepsy

Question 7

A 6-year-old with recurrent febrile seizures presents lethargic with a high fever. What is the most appropriate next step in management?

Accepted Answer

Perform lumbar puncture

Answer

Consider using antipyretics for comfort

Answer

Start anticonvulsants

Answer

Order urgent EEG

Question 8

A newborn exhibits poor feeding, a weak cry, and generalized muscle weakness from birth. There is no significant maternal medical history. What is the most likely diagnosis?

Accepted Answer

Genetic condition leading to muscle weakness

Answer

Infant botulism from spore ingestion

Answer

Autoimmune neuromuscular disorder

Answer

Perinatal asphyxia with hypoxic-ischemic encephalopathy

Question 9

A 2-year-old boy presents with generalized tonic-clonic seizures, and his development has been normal. Which investigation should be performed first?

Accepted Answer

Electrolyte levels

Answer

CT scan of the head

Answer

EEG

Answer

MRI

Question 10

Which of the following is NOT a feature of Rett's syndrome?

Accepted Answer

Focal Convulsions

Answer

Cardiac arrhythmias

Answer

Microcephaly

Answer

Regression of milestones

Neurology — MCQs

Neurology — MCQs

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